AIM Phenylalanine hydroxylase (PAH) deficiency is caused by mutations in the PAH gene resulting in a primary deficiency of the PAH enzyme activity, intolerance to the dietary intake of phenylalanine (Phe), and production of the phenylketonuria disease. To date there have been no reports on the molecular analysis of phenylketonuria in the Iranian Azeri Turkish population. In this study, a total ...

Fabry disease (FD) is an underdiagnosed pathology due to its symptomatology that overlaps with various systemic and rheumatic disorders, including familial Mediterranean fever (FMF). We examined the Mediterranean fever (MEFV) and α-galactosidase A (GLA) genes, whose mutations are responsible for FMF and FD, respectively, in 42 unrelated patients diagnosed with FMF, which revealed significant am...

When the molecular background of couples requesting prevention is unclear, family analysis and tools to define rare mutations are essential. We report two novel deletion defects observed in an Italian and in a Turkish couple. The first proband presented with microcytic hypochromic parameters without iron deficiency, a normal HbA(2) and an elevated HbF (10.6%). His father presented with a simila...

Myocardial infarction (MI) is a leading cause of morbidity and mortality worldwide (1). Acute MI generally develops following a critical narrowing of the coronary artery or a narrowing or complete occlusion of the coronary vessel by an acute plaque rupture (2). MI in young adults may be categorized into two groups as normal coronary artery anatomy and coronary artery disease (CAD) accompanied b...

Sir, Red cell glucose-6-phosphate dehydrogenase (G6PD) deficiency is not rare in Turkey. The frequency of this enzyme deficiency in Turkish males was reported to vary between 0.5-11.4% depending upon geographical areas and/or ethnic groups.1,2 Molecular studies of red cell G6PD enzyme revealed the presence of about 122 mutations which were recently reviewed by Vulliamy et al.3 Enzyme deficiency...

glucose-6-phosphate dehydrogenase (g6pd) in humans is in x-linked disorder, housekeeping enzyme and vital for the survival of every cell. it catalyses the oxidation of glucose-6-phosphate to 6-phospho gluconat in the first committed step of the pentose phosphate pathway, which provides cells with pentoses and reducing power in the form of nadph. nadph is required to protect the cells against ox...

Thalassemia minor (MT), either β or α, is the most frequent single gene mutation in human beings affecting 6% of population worldwide. It more Mediterranean region, Africa and South-East Asia. On other hand Iron deficiency anemia (IDA), nutritional secondary to gastrointestinal menstrual bleeding, cause acquired anemia. Differentiation between these two types important because both them present...